protein hairless; lysine-specific demethylase hairless (HR)

Function

• histone demethylase
• specifically demethylates both mono- & dimethylated 'Lys-9' of histone H3
• may act as a transcription regulator controlling phase(s) of hair growth (via targeting of collagens), neural activity, & cell cycle

Cofactor:

• Fe+2; binds 1 Fe+2 ion per subunit

Structure

• contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs
  • the LXXLL motifs are essential for the association with nuclear receptors (putative)
• the JmjC domain & the C6-type Zn+2-finger are required for the demethylation activity
• contains 1 JmjC domain

Compartment

nucleus

Alternative splicing

named isoforms=2

Expression

• isoform 1 is almost always more abundant than isoform 2
• isoforms 1 & 2 in small intestine > brain, colon > liver, pancreas, spleen, thymus, stomach, salivary gland, appendix, trachea; isoform 1 always the most abundant
• isoform 1 exclusively expressed at low levels in kidney, testis
• isoform 2 exclusively expressed in skin

Pathology

• defects in hairless are the cause of
  • alopecia universalis congenita
  • atrichia with papular lesions
  • hypotrichosis 4

More general terms

• histone demethylase
• zinc finger protein
• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55806
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55806
• OMIM: https://mirror.omim.org/entry/146550
• OMIM: https://mirror.omim.org/entry/203655
• OMIM: https://mirror.omim.org/entry/209500
• OMIM: https://mirror.omim.org/entry/602302
• UniProt: http://www.uniprot.org/uniprot/O43593.html